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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA2611726564
Gene: DRD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-640038-GCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGCT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640046_640189del , CM000673.2:g.640046_640189del
GRCh38
NC_000011.9:g.640046_640189del , CM000673.1:g.640046_640189del
GRCh37
NC_000011.8:g.630046_630189del
NCBI36
NG_021241.1:g.7742_7885del
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.797_940del
MANE Select
ENSP00000176183.5:p.Ala266_Pro313del
ENST00000176183.5:c.797_940del
ENSP00000176183.5:p.Ala266_Pro313del
NM_000797.3:c.797_940del
NP_000788.2:p.Ala266_Pro313del
NM_000797.4:c.797_940del
MANE Select
NP_000788.2:p.Ala266_Pro313del
Search 100 bp 5'
Search 100 bp 3'